Variant report

Variant	rs6683653
Chromosome Location	chr1:152268004-152268005
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10888483	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204976	0.85[AMR][1000 genomes]
rs11204978	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11576858	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11584427	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11586114	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11588170	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12405241	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12405278	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12406105	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12407156	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12407748	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12407807	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12566867	0.82[EUR][1000 genomes]
rs12730241	0.83[AMR][1000 genomes]
rs1858482	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2050631	0.81[ASN][1000 genomes]
rs2065955	0.83[EUR][1000 genomes]
rs2065956	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2184951	0.85[AMR][1000 genomes]
rs2338555	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2338556	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3120642	0.81[ASN][1000 genomes]
rs3120662	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126066	0.86[EUR][1000 genomes]
rs3126067	0.85[EUR][1000 genomes]
rs3126085	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126088	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126089	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126092	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126095	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126098	0.86[EUR][1000 genomes]
rs4369233	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4582793	0.80[ASN][1000 genomes]
rs55650366	0.81[AMR][1000 genomes]
rs55654502	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58832908	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6661167	0.85[EUR][1000 genomes]
rs6681433	0.81[AMR][1000 genomes]
rs71625201	0.82[AMR][1000 genomes]
rs71625202	0.89[AFR][1000 genomes]
rs72697000	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72698906	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3357297	chr1:152266328-152270926	Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3323815	chr1:152267528-152272226	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6683653	FLG	cis	Thyroid	GTEx

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152264200-152275400	Weak transcription	Ovary	ovary

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